| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
A
|
CHN
|
n.a.
|
2
|
n.a.
|
Bradykinesia
Muscular hypotonia Gait difficulties Cognitive impairment Seizures Delayed speech and language development Developmental delay/intellectual disability Intellectual developmental disorder Spasticity Global developmental delay Abnormal central motor function Show more (+8) |
n.a.
|
|
Yes
|
♀
|
A
|
CHN
|
n.a.
|
10
|
No
|
Spasticity
Delayed speech and language development Cognitive impairment Microcephaly Abnormal central motor function Developmental delay/intellectual disability Global developmental delay Gait difficulties Bradykinesia Muscular hypotonia Seizures Autonomic sign/sympt. Intellectual developmental disorder Show more (+10) |
n.a.
|
|
No
|
♂
|
A
|
CHN
|
n.a.
|
5
|
n.a.
|
Autonomic sign/sympt.
Seizures Spasticity Intellectual developmental disorder Cognitive impairment Delayed speech and language development Bradykinesia Developmental delay/intellectual disability Abnormal central motor function Gait difficulties Global developmental delay Muscular hypotonia Show more (+9) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
n.a.
|
21
|
No
|
Developmental delay/intellectual disability
Cognitive impairment Abnormal central motor function Spasticity Dystonia (any or unspecified) Gait difficulties Muscular hypotonia Intellectual developmental disorder Show more (+5) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
n.a.
|
7
|
n.a.
|
Developmental delay/intellectual disability
Spasticity Gait difficulties Cognitive impairment Dystonia (any or unspecified) Muscular hypotonia Abnormal central motor function Intellectual developmental disorder Show more (+5) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
n.a.
|
1
|
No
|
Bradykinesia
Intellectual developmental disorder Global developmental delay Cognitive impairment Delayed speech and language development Abnormal central motor function Spasticity Muscular hypotonia Seizures Developmental delay/intellectual disability Gait difficulties Show more (+8) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
n.a.
|
8
|
n.a.
|
Seizures
Cognitive impairment Developmental delay/intellectual disability Abnormal central motor function Global developmental delay Spasticity Bradykinesia Gait difficulties Autonomic sign/sympt. Delayed speech and language development Muscular hypotonia Intellectual developmental disorder Show more (+9) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
n.a.
|
2
|
No
|
Muscular hypotonia
Intellectual developmental disorder Global developmental delay Delayed speech and language development Gait difficulties Developmental delay/intellectual disability Bradykinesia Abnormal central motor function Spasticity Seizures Microcephaly Cognitive impairment Show more (+9) |
n.a.
|
|
Yes
|
♀
|
A
|
CHN
|
n.a.
|
1
|
No
|
Developmental delay/intellectual disability
Microcephaly Cognitive impairment Spasticity Global developmental delay Abnormal central motor function Seizures Delayed speech and language development Intellectual developmental disorder Muscular hypotonia Gait difficulties Bradykinesia Autonomic sign/sympt. Show more (+10) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
n.a.
|
2
|
n.a.
|
Seizures
Global developmental delay Abnormal central motor function Microcephaly Spasticity Muscular hypotonia Cognitive impairment Intellectual developmental disorder Bradykinesia Delayed speech and language development Developmental delay/intellectual disability Gait difficulties Show more (+9) |
n.a.
|